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WHAT IS THE CMD FOR COLLAGEN VI DEFICIT?

CONGENITAL MUSCULAR DISTROPHY (CMD) CAUSED BY DEFICIT IN COLLAGEN VI IS A VERY SEVERE ILLNESS. THIS TYPE OF CMD IS ONE OF THE RARE DISEASES, AND AT THE MOMENT DOES NOT HAVE CURE.

CMD caused by dèficit in collagen VI is a degenerative illness that affects the muscles. It is caused by a mutation in some of the genes involved in the syntesisof collagen VI (COL6A1, COL6A2, COL6A3).

There are 2 different kind of illness depending on the evolution:
• The DMC Ullrich, is clinically more severe.
• The DMC Bethlem, is clinically less severe.

We are currently seeing intermediate forms between them.

This illness is present from birth, the main symptoms are lack off strenght in the muscles, fingers and toes hyperlaxity and contractures that tend to improve at the beginning and then can progress again. The tendons are shorter too, specially the Achilles tendon, muscular weakness and spinal rigidity.

Most of the patients affected acquire the ability to walk until the end of the first decade. Accompanying the loss of ability to walk around this time a nocturnal respiratory insuficiency appears and emerges progressively, and they will need to use a night ventilator, if not the potential risk of death increases.

PHYSIOTHERAPY IS KEY IN THE TREATMENT OF COLLAGEN VI CONGENITAL MUSCULAR DYSTROPHY…

Physiotherapy Exercises

Physiotherapy is a fundamental therapeutic resource to maximize the patient’s functional capacity and minimize complications. It helps to prevent and/or reducing muscle contractures, preventing and/or reducing joint and spinal stiffness as well as delaying the appearance of retractions.

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Research Projects

BIOMARKER RESEARCH FOR COL6-RELATED DYSTROPHIES

BIOMARKER RESEARCH FOR COL6-RELATED DYSTROPHIES

Search for reliable biomarkers that allow evaluating the progression of the disease and the response to new treatments.

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PERSONALIZED MEDICINE THERAPIES FOR CONGENITAL MUSCULAR DYSTROPHIES

PERSONALIZED MEDICINE THERAPIES FOR CONGENITAL MUSCULAR DYSTROPHIES

Development of advanced molecular diagnostic methods for the accurate diagnosis of congenital muscular dystrophies and novel gene therapies for the treatment of collagen VI deficiency.

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DEVELOPING TWO RNA DIRECTED APPROACHES TO TREATING THE RECURRENT GLYCINE VARIANTS P.G284R AND P.G293R IN COL6A1

DEVELOPING TWO RNA DIRECTED APPROACHES TO TREATING THE RECURRENT GLYCINE VARIANTS P.G284R AND P.G293R IN COL6A1

Chemical engineering of therapeutic siRNAs and use of circular RNA guides.

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#CollagenVI News

STAY UP TO DATE WITH ALL THE NEWS ABOUT CONGENITAL MUSCULAR DYSTROPHY DUE TO COLLAGEN VI DEFICIENCY..

Here you will find a summary of each of the conferences and congresses that Fundación Noelia attends and the most important articles about Collagen VI.

Informative session for families and those affected by collagen VI

On February 25, a new information session was held aimed at families and affected by…

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9th Information Conference for Patients and Families with Neuromuscular Diseases.

On November 26, the FN team participated for another year in the 9th Information Conference…

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VI Scientific Meeting of Collagene VI Italia APS

Noelia Foundation participates in the VI Scientific Meeting of the Italian association of DMC-Col6 patients,…

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Fundación Noelia participates in a new edition of CureCMD’s Science & Family Meeting on Congenital Muscular Dystrophies

Last week, delegates of Fundación Noelia attended the 2022 edition of the SciFam Meeting 2022…

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Collagen VI Meeting 2022

On June 10, 11 and 12, 2022, the I Scientific and Family Meeting Muscular Dystrophy…

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COVID-19 VACCINES AND NEUROMUSCULAR DISEASES, 23

On February 23rd, 2021, we participated in one of the seminars organized by ASEM Catalonia:…

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An update on potential adjuvant therapies in Collagen VI CMD: Alisporivir, Givinostat and Omigapil

In recent years, news have emerged from time to time that point to the potential…

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Conference on Rare and Complex Diseases

Noelia Foundation participates in the Conference on Rare and Complex Diseases at the Hospital Sant…

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VI Day of families with Neuromuscular Diseases

One more year Noelia Foundation present in the Day of families with Neuromuscular Diseases, organized…

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2019 Congenital Muscle Disease Scientific & Family Conference

Last July, Noelia Foundation attended the 2019 Congenital Muscle Disease Scientific & Family Conference organized…

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SEMINAR Dr. Carsten Bönnemann

On July 9th and 10th, Noelia Foundation participated in the scientific CMD seminar plus a…

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