Site hosted by Angelfire.com: Build your free website today!

Treatment Options and Possibilities

Physical Therapy  |  Supplements & Drugs  | Gene Therapy  |  Cell Transfer

This is the important stuff. What are the most current treatment options and what does the immediate future hold? The time seems right for major advances in genetic engineering to offer a viable treatment, if not cure, for DMD. Many avenues of research are running in parallel each with their own benefits and hurdles. Very basically there are three major treatment approaches (1) drug therapy - throw drugs at it (2) gene therapy - send a good gene into the defective cell on a virus hoping that it will settle in and take over for the defective gene (3) cell transplant therapy - inject a good cell into the affected muscle in an attempt to repair or regenerate muscle.

Physical Therapy  |  Supplements & Drugs  | Gene Therapy  |  Cell Transfer
Back To Info Menu

Physical Therapy

(In Memory of Dominic Cardelli - PT, Uncle and all around great man)

Physical therapy is necessary to control contractures of the limbs and maintain strength. Contractures restrict a joint's range of motion. Physical Therapy is still the only constant that all DMD treatment programs that I know of endorse. The balancing act one walks with physical therapy for DMD is a fine line between maintaining functional strength and flexibility or accelerating the muscle degeneration. You are best advised to consult a Physical Therapist (PT) that is familiar with DMD before attempting any of the activities listed below. The basic concept is to keep someone as active as possible for as long as possible. The 'program' targets leg muscles along with general conditioning. I should mention at this point that Alex was taking a low daily dosage of a steroid called prednisone which is covered in the following section. Swimming and walking are also crucial alternatives to the routine. A large repertoire of exercises (just don't call 'em exercises) is developed to help keep things varied and interesting.

Here's a brief list of activities we've tried with varying degrees of success:

The Parent Project used to offer an excellent book: PHYSICAL THERAPY MANAGEMENT OF MUSCULAR DYSTROPHY, written by Mary Beth Deering, P.T. for parents and medical professionals although I don't know if its still available.

We've also tried AFOs (Ankle Foot Orthoses) are custom fitted plastic braces that hold the ankles at approximately a 90 degree angle. The person wears the AFOs about 2 hours a day while relaxing watching TV or doing homework. This is thought to delay contractures of the Achilles tendon (heel cord) which cause a dropping of the toes in sleep and later while walking (toe walking).

Physical Therapy  |  Supplements & Drugs  | Gene Therapy  |  Cell Transfer
Back To Info Menu

Compounds and Nutritional Supplements Considered for the Management of DMD

Vitamins

Vitamin therapy appears to be a very inexact science although I believe that certain vitamins have been shown to influence general health and possibly overall muscle quality. I do not directly recommend the follow vitamin therapy to anyone. I urge you to always consult a physician before beginning a vitamin program especially one of this magnitude on a child. The vitamin dosages that we've tried are the result of word of mouth experience from parents and patients who believe that certain vitamin supplements provide tangible improvements.

When Alex weighed approximately 50 pounds he was taking the following daily :

Physical Therapy  |  Supplements & Drugs  | Gene Therapy  |  Cell Transfer
Back To Info Menu

Prednisone

Dr. Marks (A.I. duPont Institute) prescribed 12 mg prednisone daily (0.75 mg/kg/day) for an indefinite length. Studies have shown, that if side effects can be tolerated, this optimized dosage could cause initial improvement in strength and slow the progression of the disease for at least three years. The thought is to maintain the current activity level in developing treatment schemes are successful in stopping muscle degeneration but do not cause regeneration.

The side effects of prednisone are well documented. Side effects include weight gain, potassium loss, behavioral change, acne, insomnia, high blood pressure, weak bones and many others.

During the first 3 months on 0.75mg of prednisone/kg/day Alex began to appear stronger. After two weeks, time to go up and down steps improved as did technique which went from one step at a time (same foot first always) to the normal alternating steps. There were other marked improvements in leg strength with the reduction (almost elimination) of Gower's sign and the new ability to pedal a big wheel (tricycle) for respectable distances on flat pavement. At around three months the increase in strength began to plateau. After a six month period, the only obvious side effects Alex has shown are increased weight gain (approximately 5 pounds/3 month check up) and rather abrupt mood changes. Electrolytes are monitored as Alex watches his salt intake and increases the amount of potassium rich food he eats like bananas.

Alex has tolerated the prednisone quite well for 8 years now. After 3 years at 12mg per day we decided to increase the dosage slightly to 15mg per day. He remains at that dosage today (October 2003 - age 13). We really don't know how much benefit they provide at this stage but if it ain't broke why fix it. It seems to have helped. At this point we are reluctant to stop the steroid treatment for fear that it would precipitate a rapid decline. Would we do it again if we had to make that awful decision again? We don't know.

Go to latest research updates on gene therapy trials for DMD.

Physical Therapy  |  Supplements & Drugs  | Gene Therapy  |  Cell Transfer
Back To Info Menu

Other Drugs

Just keeping a running list of drugs that have been considered for DMD treatment. I in no way endorse the use of any of these drugs. As always, please consult a qualified physician before beginning a treatment or therapy program of any kind.

Physical Therapy  |  Supplements & Drugs  | Gene Therapy  |  Cell Transfer
Back To Info Menu

Gene Therapy

Gene therapy is a term used to describe a growing field of medicine involving manipulation of cells to treat or cure a variety of inherited diseases. The object of gene therapy for DMD is to insert a healthy dystrophin gene into kids' muscle cells to replace or repair the DMD gene. DMD has been a target for gene therapy researchers for a relatively long time compared to other diseases most likely due to the early identification of the gene responsible for DMD. The technology has advanced to the point where researchers can grow, create, clone the dystrophin gene. The problem is how to get the gene right spot in the body and only 'turn-on' the gene in cells where it is needed. Most current approaches involve injection of the gene, in a vehicle known as a vector, directly into muscle or into the bloodstream.

Some of the hurdles that scientists still face are:

Researchers work with many different viruses to find the ideal vector for the dystrophin gene. These can be full sized dystrophin genes or stripped down mini-genes. These streamlined, functioning mini-genes fit into a wider variety of viral vectors. The virus is born to enter the body, evade the immune system, penetrate cells and deliver a load of DNA. Scientists can grow the virus, gut the original gene cargo and insert the replacement gene. This 'stealth' vector must evade the immune system and continue to express the therapeutic gene indefinitely. Some of the most widely studied viruses are:

Some very positive results have been achieved in a mouse model for DMD (mdx mouse) using various types of virus as the transport into the muscle cell. Experiments progressed to trials on dogs that also exhibit the muscle degeneration associated with DMD. The animal trials of adenoviral gene transfer look promising. Researchers have submitted for FDA approval of clinical human trials of the adenoviral vectors only for safety concerns. If successful, phase two would presumably be actual gene transfer trials. This first trial is in not an attempt to treat DMD it is only to prove the safety of this new virus related therapy.

MDA FUNDS PROGRAMS TO TEST GROUND-BREAKING GENE THERAPY APPROACHES IN PEOPLE WITH MUSCULAR DYSTROPHY

Other research examines whether a different protein known as Utrophin can functionally take over for the missing Dystrophin protein. The search is on to find a chemical that will activate (up-regulate) the Utrophin production. Click here to view a rather technical abstract on Utrophin dated Jan 6, 1998. If you have trouble reading the technical material - the last nine words sum it up nicely. Click here to view another technical abstract on Utrophin from the same folks at the University of Ottawa dated March 16, 1999.

Click here to view a technical publication on using one's own bone marrow as a gene transfer vehicle.

Physical Therapy  |  Supplements & Drugs  | Gene Therapy  |  Cell Transfer
Back To Info Menu

Cell and Myoblast Transfer Therapy

This school of thought attempts to fuse healthy, immature muscle cells with dystrophic cells to make hybrid muscles that function normally. Government sanctioned MDA, sponsored clinical testing of Myoblast Transfer Therapy has begun on boys. The initial results are disappointing. There is a need to increase the efficiency of the transfer process. Control (suppression) of the immune system is crucial to long term persistence of the therapeutic gene. Effective and safe immunosuppression is a large piece of this puzzle. But the real roadblock for current myoblast transfer appears to be that the myoblasts that are injected into the DMD muscle don't migrate very far from the injection site. This means the muscle would need so many injections that the muscle would eventually breakdown from the sheer number of punctures before the muscle could be rescued. There are also dystrophin deficiencies in brain tissue and heart muscle which present another obstacle to the multiple injection method.

Physical Therapy  |  Supplements & Drugs  | Gene Therapy  |  Cell Transfer
Back To Info Menu