Tuesday, September 30, 2014
YOLO COUNTY NEWS
99 CENTS

Treatment offers hope for boy with rare disease

By
From page A9 | February 08, 2013 |

UC Davis clinical trials participant Jacob Rutt undergoes a 6-minute walking test to assess his physical abilities and progress with Dr. Craig McDonald. UC Davis Health System/Courtesy photo

SACRAMENTO — Jacob Rutt is a bright 11-year-old who likes to draw detailed maps in his spare time. But the budding geographer has a hard time with physical skills most children take for granted — running and climbing trees are beyond him, and even walking can be difficult. He was diagnosed with a form of muscular dystrophy known as Duchenne when he was 2 years old.

The disease affects about one in 3,500 newborns — mostly boys — worldwide. It usually becomes apparent in early childhood, as weakened skeletal muscles cause delays in milestones such as sitting and walking. Children usually become wheelchair-dependent during their teens. As heart muscle is increasingly affected, the disease becomes life-threatening and many patients die from heart failure in their 20s.

Today, Jacob is one of 51 children participating in a nationwide clinical trial for a new type treatment that could offer help to those suffering from devastating neuromuscular disease. Clinical researchers at UC Davis Medical Center and a handful other research centers around the nation are testing a high-tech drug designed to fix the underlying genetic defect causing the progressive muscular decline that is seen in children with Duchenne.

“This type of genetic therapy is the most exciting treatment approach I have witnessed in my career for Duchenne muscular dystrophy,” said Craig McDonald, professor and chair of the department of physical medicine rehabilitation, as well as principal investigator of the national clinical trial in which Jacob is participating.

“We are hopeful that it will delay many of the disease’s manifestations and ultimately improve life expectancy for patients.”

Duchenne muscular dystrophy is caused by genetic mutations in the gene for the muscle protein dystrophin. The protein is a stabilizer that protects muscle fibers; without enough functional dystrophin, muscles become damaged, causing them to weaken and deteriorate over time.

Functioning a bit like a bridge over a dangerous chasm, the experimental drug — known as drisapersen — is designed to effectively cover over the specific genetic mutation, allowing the problem area to be skipped and causing cells to produce a slightly shorter – but functional – dystrophin protein.

Recruitment challenge

Because Duchenne muscular dystrophy is rare and the drug addresses only a small subset of the genetic variants responsible for the disease, recruiting qualified patients was not easy. Of the medical centers involved in the study, UCD, with its highly regarded neuromuscular disease and physical medicine and rehabilitation expertise, enrolled the largest group of patients in the nation.

For more than a year, its eight young participants, including Jacob, have been to Sacramento from as far away as Colorado, Utah and Arizona. For each participant, the clinical trial involved weekly injections, which meant Jacob had to fly from Southern California to the UCD clinic every Friday for 24 weeks.

“I’ve never seen such a complicated study in terms of logistics,” said Erica Goude, who serves as the research coordinator at the UCD site. “We’re collaborating closely with departments of pediatrics, cardiology, radiology and several others, and their outstanding commitment to the project has made our tasks much easier and more efficient. This study is an amazing team effort that I see frequently reflected in the smiles of our patients and their families.”

The study also entails extensive physical testing to monitor each participant’s progress over time. To assess each child’s physical abilities and progress, participants complete a six-minute walking test specifically designed and validated by a team that included McDonald and Erik Henricson, a UCD muscular dystrophy researcher.

The six-minute test is used worldwide in all ambulatory clinical trials for Duchenne. Investigators also measure muscle strength and the level of dystrophin in the participants’ muscles — the latter results obtained through muscle biopsies at several times during study. Of particular interest to the research teams are the residual effects of the drug several weeks after the injection series is completed.

Reason for hope

Although McDonald says it is too early to draw conclusions from the current clinical trial, he suggests there is reason to be optimistic based on animal studies and evidence from another clinical trial in Europe. In that trial, patients and study investigators knew which patients were actually taking the experimental drug, meaning it was an “open” study.

The current U.S. study is more rigorous because doctors and families are “blinded” about which drug regimen each participant has — either one of two dosages of the drug or a placebo — until the end of the study.

According to McDonald, the antisense oligonucleotide-mediated genetic therapy approach is particularly exciting because of its potential applications to most other variants of Duchenne muscular dystrophy and other genetic diseases. Although the current experimental therapy specifically addresses mutations in only one particular region of the gene, the same therapeutic concept can be applied to many others.

“If successful, this approach can be developed into specific gene therapy that represents truly personalized medicine,” said McDonald. “Covering a mutation to restore a normal genetic open reading frame for protein synthesis can be a powerful approach for a variety of genetic diseases.”

Standardizing the drug as a therapy for Duchenne patients still requires approval by the U.S. Food and Drug Administration.

Investigators say the therapy could be similar to insulin injections for diabetes. But rather than daily injections, the Duchenne treatment might only involve weekly shots, which youngsters could learn to administer on their own.

Now that the clinical trial is closed at UCD to new enrollees, McDonald and his study team are completing the protocol for each participant and analyzing the resulting data. They expect results sometime in late 2013 or 2014 once all the participants around the country have completed the trial.

Frequent flier

n the meantime, even though no one knows whether Jacob received the genetic therapy drug or a placebo, his family is feeling good about being in a clinical trial.

According to Jacob’s dad, Timothy Rutt, the family even hopes to use some of its new frequent flier miles for upcoming vacations.

“Jake really enjoyed being part of the study,” said the elder Rutt, who, as the editor of an online news publication called altadenablog.com, has written about his son’s participation. “We were proud that he showed a great deal of courage throughout the trial and understood its importance to kids like him.”

— UC Davis Health News Office

Comments

comments

.

News

Man on a mission: transform Davis

By Dave Ryan | From Page: A1 | Gallery

 
Poppenga outlines ambitious agenda

By Jeff Hudson | From Page: A1 | Gallery

Cool Davis Festival is très chill

By Special to The Enterprise | From Page: A1 | Gallery

 
Sanity phase begins in Daniel Marsh trial

By Lauren Keene | From Page: A1

Council looks at granny-flat revision

By Dave Ryan | From Page: A1

 
Find the perfect club or organization to join

By Enterprise staff | From Page: C2 | Gallery

California becomes first state to ban plastic bags

By The Associated Press | From Page: A2

 
Standing In: Is the therapy for them, or me?

By Special to The Enterprise | From Page: A2

California exhausts initial firefighting budget

By The Associated Press | From Page: A2

 
Brown allows new local development financing tools

By The Associated Press | From Page: A2

 
Forum examines Props. 1 and 2 on November ballot

By Enterprise staff | From Page: A3

Register to vote by Oct. 20

By Enterprise staff | From Page: A4

 
Assembly candidates will be at Woodland forum

By Enterprise staff | From Page: A4

 
Pets of the week

By Enterprise staff | From Page: A4 | Gallery

California approves landmark ‘yes means yes’ law

By The Associated Press | From Page: A4

 
Try out basic yoga on Thursday

By Enterprise staff | From Page: A4

DCC welcomes students with free lunch

By Enterprise staff | From Page: A4

 
Gibson House hosts plant sale and garden event

By Special to The Enterprise | From Page: A4

UCD, University College Dublin will cooperate on food, health

By Special to The Enterprise | From Page: A5

 
Accessibility technology on exhibit at fair

By Enterprise staff | From Page: A5

Covell Gardens breakfast benefits Komen Foundation

By Enterprise staff | From Page: A5

 
Put your hoes down and celebrate the harvest

By Special to The Enterprise | From Page: A5 | Gallery

Panelists discuss raising children with special needs

By Special to The Enterprise | From Page: A5

 
DCC hosts fair-trade gift sale on Oct. 11

By Enterprise staff | From Page: A5

Number of wheels: How many bicycles do you have in your household?

By Enterprise staff | From Page: C5 | Gallery

 
Emerson gives away old textbooks

By Special to The Enterprise | From Page: A5

Downtown history tour planned in October

By Enterprise staff | From Page: A5

 
Fraud Awareness Fair set Oct. 15 in West Sac

By Enterprise staff | From Page: A5

 
Woodland PD seeks volunteers for ViP program

By Special to The Enterprise | From Page: A7

DMTC makes musical theater accessible to everyone

By Bev Sykes | From Page: C9 | Gallery

 
Take home a wreath from Davis Flower Arrangers’ meeting

By Special to The Enterprise | From Page: A10

Snapshot: A night out with the neighbors

By Enterprise staff | From Page: C10

 
Davis school names reflect interesting history

By Jeff Hudson | From Page: C12

Snapshot: Plenty of places to park it

By Enterprise staff | From Page: C14

 
Snapshot: Dive into Davis fun

By Enterprise staff | From Page: C15

Snapshot: Kick garbage to the curb

By Enterprise staff | From Page: C16

 
Snapshot: Sounds like a party

By Enterprise staff | From Page: C17

.

Forum

It takes two to lambada

By Creators Syndicate | From Page: B5

 
He seems happy at home

By Creators Syndicate | From Page: B5

Marsh case shows need for ‘Maupin’s Law’

By Special to The Enterprise | From Page: A6

 
The great bedtime conspiracy

By Letters to the Editor | From Page: A6

They’re best-prepared to lead

By Letters to the Editor | From Page: A6

 
Vibrant and hard-working

By Letters to the Editor | From Page: A6

Archer has the right stuff

By Letters to the Editor | From Page: A6

 
Tom Meyer cartoon

By Debbie Davis | From Page: A6

Get on your bikes to meet Davis’ greenhouse gas goals

By Special to The Enterprise | From Page: A6

 
.

Sports

‘Playoff game’ or missed chance? Either way the Aggies move on

By Bruce Gallaudet | From Page: B1 | Gallery

 
Devils move atop league standings with win

By Evan Ream | From Page: B1 | Gallery

 
Only 15 months out of UCD, Runas off to LPGA Tour

By Bruce Gallaudet | From Page: B1 | Gallery

Davis golfers get teaching moments in forfeit win

By Enterprise staff | From Page: B1

 
Two Junior Blue Devil squads emerge victorious

By Enterprise staff | From Page: B2

 
.

Features

.

Arts

I-House film series continues with ‘Monsieur Lazhar’

By Enterprise staff | From Page: A9

 
‘Art Farm’ exhibition will open in Woodland

By Enterprise staff | From Page: A9

Pleasant Valley Boys cool down Picnic in the Park

By Special to The Enterprise | From Page: A9 | Gallery

 
Acclaimed guitarist Peppino D’Agostino to play The Palms

By Landon Christensen | From Page: A9

 
Woodland artist hosts event at her new studio

By Enterprise staff | From Page: A9

.

Business

.

Obituaries

Danelle Evelyn Watson

By Special to The Enterprise | From Page: A4

 
Michael Allen Hanks Baxter

By Special to The Enterprise | From Page: A4

Anne Elizabeth Elbrecht

By Special to The Enterprise | From Page: A4

 
.

Comics

Comics: Tuesday, September 30, 2014 (set 1)

By Creator | From Page: B5

 
Comics: Tuesday, September 30, 2014 (set 2)

By Creator | From Page: B7