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March20 podcast Dr Hazen
anti-TMA pill in a year or 2 ? (scroll 12 mins)

Additional info:
MEBO Karen
at UK Findacure conf 2020

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MEBO Map Testing & Meetups

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MEBO - UBIOME study 2018



MEBO Gut Microbiome Study
"Microbial Basis of Systemic Malodor and PATM Conditions (PATM)"
Funded by uBiome Research Grant

"Microbial Basis of Systemic Malodor and PATM Conditions (PATM)"

Dynamics of the Gut Microbiota in
Idiopathic Malodor Production

Started May 2018 - Ongoing

Current people sent kits : 100/100
3 kits per person


Participation info : LINK English

MEBO Private Facebook Group
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Join/Watch the weekly
BO Sufferers Podcasts



TMAU Petition world
TMAU UK end total:262
TMAU UK ends 23/01/20
TMAU Petition USA end total 204
USA : Moveon open
TMAU (Dominican)
Metabolomic Profiling Study

Start : Aug 2016
Stage 1 : 27 Canadian volunteers to test
Latest click here (26 oct) :
17 samples returned

Note : Stage 1 is Canada only.
Return cut-off date : passed
Analysis can take 6/8 weeks
Analysis start in/before Nov
MEBO Research is a
NORD Member Organization
See RareConnect TMAU

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Denver TMAU Test Lab survey click here
click to Read more/less

USA survey for anyone who wants to improve Denver TMAU test

begun : Dec22
end : no ending for now

A trainee genetic counselor is working at the Denver TMAU test lab. Probably as part of her training. As a project she wishes feedback on any aspect of the Denver TMAU test and process. You can fill in the survey and/or email her (email address is in survey). It's meant for USA people, but perhaps others can give their view too (as we have so few opportunities).

quote from her rareconnect post

"Hello all! I wanted to make you aware of a research study being conducted to better understand the experience and needs of individuals with trimethylaminuria with a goal of being able to create improved patient and healthcare provider education materials. Any participation is completely voluntary and all responses remain confidential. Feel free to use the contact information within the link with any questions or share the survey with others with TMAU."

see this post for more details

Tuesday, October 26, 2010

Ataluren now being tested for methylmalonic acidemia

Note : Ataluren would only be potentially beneficial for those with a genetic disorder caused by a nonsense mutation, which is likely to be a minority

Regular readers will be aware that PTC Therapeutics are trialling a drug called Ataluren which is hoped to be able to 'negate' the nonsense premature stop order that happens with nonsense mutations, and so it is hoped will enable the protein to fully develop. Ideally, this would mean it completely negates a genetic disorder caused by a nonsense mutation although presumably a 100% achievement is not currently expected, and it is more likely hoped to improve the disorder to some degree.

Trials are ongoing using Ataluren as a treatment for cystic fibrosis, with the reported outcome being some improvement. They are also trialling it for hemophilia.

PTC Therapeutics have now released a press statement about their plans for a Phase 2 trial for sufferers who have nonsense mutations for Methylmalonic Acidemia, which is a very serious life-threatening enzyme disorder.

Ataluren is hoped to be beneficial in all enzyme disorders caused by nonsense mutations. Genetic Trimethylaminuria would obviously include a subset who fit this category (those with genetic TMAU due a nonsense mutation), but we do not know what percent of genetic TMAU cases are caused by nonsense mutations. It is likely to be a minority.

- First proof-of-concept clinical study of ataluren in a metabolic disorder -

SOUTH PLAINFIELD, NJ – October 26, 2010 – PTC Therapeutics, Inc. today announced that it is expanding the development of ataluren, an investigational new drug, with the initiation of a Phase 2 clinical trial in nonsense mutation methylmalonic acidemia (nmMMA).  MMA is a rare genetic disorder caused by deficiencies of crucial metabolic enzymes.  Lack of these enzymes causes toxic levels of methylmalonic acid to accumulate in body fluids resulting in life-threatening metabolic complications affecting mainly the brain and kidneys


Anonymous said...

i just saw the program at dicovery home and health, about cheryl! oh girl you are such a warrior, no one could survive at high school whit this trauma! im a medicine student and so intersted on study the case. please keep updating the web page, you are teaching soo many people out there! god bless u

Nov 22, 2010, 6:04:00 PM
Maria de la Torre said...

Thank you Anonymous. I will pass your comment to Cheryl as well. Thank you for your support.

Nov 22, 2010, 6:16:00 PM
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